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rs121434636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434636(C;T)
Make rs121434636(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position91297993
GeneAUH
is asnp
is mentioned by
dbSNPrs121434636
dbSNP (classic)rs121434636
ClinGenrs121434636
ebirs121434636
HLIrs121434636
Exacrs121434636
Gnomadrs121434636
Varsomers121434636
LitVarrs121434636
Maprs121434636
PheGenIrs121434636
Biobankrs121434636
1000 genomesrs121434636
hgdprs121434636
ensemblrs121434636
geneviewrs121434636
scholarrs121434636
googlers121434636
pharmgkbrs121434636
gwascentralrs121434636
openSNPrs121434636
23andMers121434636
SNPshotrs121434636
SNPdbers121434636
MSV3drs121434636
GWAS Ctlgrs121434636
Max Magnitude0
OMIM600529
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434636(T;T)
Alt rs121434636(T;T)
Reference Rs121434636(C;C)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria
Variation info
Gene AUH
CLNDBN 3-Methylglutaconic aciduria
Reversed 1
HGVS NC_000009.11:g.94060275G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009623.5,